D42E (p.Asp42Glu) variant of ID3 (Q02535)
D42E (p.Asp42Glu) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D42E (p.Asp42Glu) variant details
- p.Asp42Glu
- ExAC rs753832107
- TOPMed rs753832107
- gnomAD rs753832107
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.37
- MetaLR 0.80
- MetaSVM 0.63
- CADD 21.80
- PolyPhen-2 0.20
- SIFT 0.13
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available